Variant: rs758014228 

    present in Gene: ATP13A2
    present in Chromosome: 1
    Position on Chromosome: 17004690
    Alleles of this Variant: A/C

rs758014228 in ATP13A2 gene and KUFOR-RAKEB SYNDROME PMID 21696388 2012 Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9).

PMID 16964263 2006 Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase.

rs758014228 in ATP13A2 gene and SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE PMID 21696388 2012 Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9).

PMID 16964263 2006 Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase.